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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Journal of Medical Genetics, 2011-05, Vol.48 (5), p.334-342

2011

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Dynamic metabolomic data analysis: a tutorial review

Metabolomics, 2010-03, Vol.6 (1), p.3-17

2010

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Clinical and Genetic Characteristics of Late-onset Stargardt's Disease

Ophthalmology (Rochester, Minn.), 2012-06, Vol.119 (6), p.1199-1210

2012

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Poiseuille flow to measure the viscosity of particle model fluids

The Journal of chemical physics, 2005-04, Vol.122 (15), p.154503-154503

2005

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Mutation update on the CHD7 gene involved in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1149-1160

2012

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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

Clinical genetics, 2011-01, Vol.79 (1), p.49-59

2011

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Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Human molecular genetics, 2022-09, Vol.31 (19), p.3290-3298

2022

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Nature genetics, 2011-01, Vol.43 (1), p.20-22

2011

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nature genetics, 2011-04, Vol.43 (4), p.356-359

2011

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314

2006

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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.290-294

2012

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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

American journal of human genetics, 2012-11, Vol.91 (5), p.883-889

2012

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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

American journal of human genetics, 2011-05, Vol.88 (5), p.628-634

2011

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Clinical genetics, 2009-01, Vol.75 (1), p.65-71

2009

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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2013-12, Vol.120 (12), p.2697-2705

2013

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.919-927

2019

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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.189-194

2015

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Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

Journal of otolaryngology-head and neck surgery, 2023-12, Vol.52 (1), p.82-82, Article 82

2023

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L1 retrotransposition can occur early in human embryonic development

Human molecular genetics, 2007-07, Vol.16 (13), p.1587-1592

2007

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Human molecular genetics, 2010-07, Vol.19 (14), p.2858-2866

2010

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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Molecular cytogenetics, 2023-09, Vol.16 (1), p.1-26, Article 26

2023

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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Clinical and experimental immunology, 2008-07, Vol.153 (1), p.75-80

2008

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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

Ophthalmology science (Online), 2023-12, Vol.3 (4), p.100303-100303, Article 100303

2023

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TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy

PloS one, 2014-07, Vol.9 (7), p.e102065

2014

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Dynamic metabolomic data analysis: a tutorial review

Clinical and Genetic Characteristics of Late-onset Stargardt's Disease

Poiseuille flow to measure the viscosity of particle model fluids

Mutation update on the CHD7 gene involved in CHARGE syndrome

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

L1 retrotransposition can occur early in human embryonic development

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy

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